Foreword 2

Oral Presentations and Posters 3

Index 63

deux choses sont simples: raconter le passé et prédire l'avenir. y voir clair au jour le jour est une autre entreprise.

the tradition of the european academy of childhood disability (eacd) suggests that i write an editorial for this issue about trends, prospects, and priorities. the quote above, from the delicious armand salacrou, makes me humble in this task.

in the past few years, the biochemistry of the ataxia–telangiectasia mutated (atm) protein and our knowledge of its cellular functions has surged ahead. the neurology of ataxia–telangiectasia (at), including its presenting features in early childhood, as well as its progression and further ramifications in early adulthood, were discussed at the international conference on at in birmingham, uk.

this report concerns the development and stability of recall memory at 12, 24, and 36 months of age in preterm (<1750g birthweight) and term children from a prospective, longitudinal study. there were 56 preterm children (55.4% male; mean birthweight 1119.5g [sd 279.2], range 551 to 1742g; mean gestational age 29.7 weeks [sd 2.9], range 25 to 36wks) and 126 term controls (51.6% male; mean birthweight 3453.8g [sd 438.2], range 2500 to 4564g; mean gestational age 40.2 weeks [sd 1.1], range 38 to 42wks). recall memory was assessed using an elicited imitation task in which children attempted to reproduce a sequence of actions 15 minutes after they were modeled by the examiner. relative to term children, the preterm group performed poorly at all three ages: they reproduced fewer actions overall and fewer in the correct order. lower birthweight and lengthier postnatal hospitalization were associated with poorer performance in preterm children at 24 and 36 months. although performance improved considerably for both groups with age, there was no evidence of preterm ‘catch-up’: the deficits detected at 12 months did not diminish with age. individual differences in recall were modestly stable from one year to the next, with cross-age correlations highest from 24 to 36 months (r=0.43 to 0.49). these results suggest that preterm children have deficits in recall memory that emerge by 12 months and persist into early childhood.

adaptive behavior requires the integration of body movement and attention. therefore, individual differences in integration of movement and attention during infancy may have significance for development. we contacted families whose 8-year-old children (n=26; 16 females, 10 males; mean age 8y 2mo, sd 8mo) participated in a previous study of movement–attention coupling at 1 or 3 months of age, to assess parent-reported attention or hyperactivity problems using the child behavior checklist and diagnostic and statistical manual of mental disorders (4th edn) criteria. parent-reported attention problems at 8 years of age were associated with less suppression of body movement at onset of looking, and greater rebound of body movement following its initial suppression at 3 months, but not at 1 month. parent-reported hyperactivity was not related to any of the infant movement–attention measures. results suggests that the dynamic integration of movement and attention early in life may have functional significance for the development of attention problems in childhood.

the aim of this study was to establish the rate and spectrum of psychiatric disorder among children before and after temporal lobe surgery for epilepsy. data were examined for associations between psychopathology and seizure outcome following surgery, or association between psychopathology and other variables, such as laterality of lesion, sex, cognitive level, and underlying pathology. participants were 60 children (35 males, 25 females) who had focal seizures of temporal lobe origin and who had undergone temporal lobe resection between 1992 and 1998; mean age at time of operation 10y 7mo, (sd 4y 11mo) range 7mo to 17y 11mo. mean length of follow-up was 5.1 years (sd 2.3, range 2 to 10y). twenty-eight (47%) children had undergone right temporal lobectomy. diagnosis of a psychiatric disorder was present in 50/60 (83%) children at some point, with high rates of psychiatric comorbidity. common childhood psychiatric disorders of attention-deficit–hyperactivity disorder, oppositional defiant disorder/conduct disorder, and emotional disorders were present in about 25% of children. disorders rarely seen in the general child population were over-represented: disruptive behaviour disorder – not otherwise specified (30/60 [50%]), and pervasive developmental disorder (autistic spectrum disorder; 23/60 [38%]). there was no significant relationship between pathology, sex, seizure frequency, or postoperative seizure outcome and psychiatric disorder, other than for pervasive developmental disorder. the same proportion of children had psychiatric diagnoses pre- and postoperatively (43/60 [72%] and 41/57 [72%] respectively). although mental health problems are common in children undergoing temporal lobe resection, there are few predictors of psychiatric outcome following epilepsy surgery. parents require counselling on these issues in the preoperative work-up.

self-injury is a defining feature of lesch–nyhan disease (lnd) but does not occur in the less severely affected lesch–nyhan variants (lnv). the aim of this study was to quantify behavioral and emotional abnormalities in lnd and lnv. thirty-nine informants rated 22 patients with lnd (21 males, 1 female), 11 males with lnv, and 11 healthy controls (hc; 10 males, 1 female) using two well-validated rating scales. the age of patients with lnd ranged from 12 years 7 months to 38 years 3 months (mean 22y 11mo; sd 7y 8mo), whereas the age range of those with lnv was 12 years 9 months to 65 years (mean 30y 7mo; sd 15y 2mo), and the healthy controls were aged 12 years 4 months to 31 years 3 months (mean 17y 10mo; sd 5y 7mo). behavioral ratings were based on the child behavior checklist and the american association on mental retardation's adaptive behavior scale – residential and community, 2nd edition. statistical analyses revealed that patients with lnd showed severe self-injury together with problematic aggression, anxious-depressed symptoms, distractibility, motor stereotypes, and disturbing interpersonal behaviors. patients with lnv were rated as being intermediate between the hc and lnd groups on all behavior scales. although the lnv group did not differ from hcs on most scales, their reported attention problems were as severe as those found in lnd. we conclude that self-injurious and aggressive behaviors are nearly universal and that other behavioral abnormalities are common in lnd. although patients with lnv typically do not self-injure or display severe aggression, attention problems are common and a few patients demonstrate other behavioral anomalies.

preschool children diagnosed with either global developmental delay (gdd) or developmental language impairment (dli) were reassessed during their early school years with standardized developmental (battelle developmental inventory [bdi]) and functional (vineland adaptive behavior scale [vabs]) outcome measures. of an original cohort of 99 children with gdd and 70 children with dli assessed and diagnosed at a mean age of 3 years 5 months (sd 1.1) and 3 years 7 months (sd 0.7) respectively, 48 children (34 [71%] males) with gdd and 43 children (36 [84%] males) with dli were reassessed at a mean age of 7 years 4 months (sd 0.9) and 7 years 5 months (sd 0.7) respectively. the overall total mean bdi score for children with gdd was 66.4 (sd 4.3) versus 71.9 (sd 8.2) for children with dli (p=0.002). on each subdomain of the bdi, except communication, mean scores for the gdd group were significantly lower than for the dli group (p<0.05). similarly, the vabs total score for the gdd group was significantly lower than for the dli group (p<0.001). for each subdomain of the vabs, the gdd group scored significantly lower than the dli group (p<0.001). the proportion of children falling below meaningful cut-offs on the outcome measures selected was significantly higher for those initially diagnosed with gdd. preschool diagnosis of either gdd or dli has later prognostic validity with regard to persisting developmental and functional deficits.

the feasibility of percutaneous intramuscular functional electrical stimulation (p-fes) in children with cerebral palsy (cp) for immediate improvement of ankle kinematics during gait has not previously been reported. eight children with cp (six with diplegia, two with hemiplegia; mean age 9 years 1 month [sd 1y 4mo; range 7y 11mo to 11y 10mo]) had percutaneous intramuscular electrodes implanted into the gastrocnemius (ga) and tibialis anterior (ta) muscles of their involved limbs. stimulation was provided during appropriate phases of the gait cycle in three conditions (ga only, ta only, and ga/ta). immediately after a week of practice for each stimulation condition, a gait analysis was performed with and without stimulation. a significant improvement in peak dorsiflexion in swing for the more affected extremity and dorsiflexion at initial contact for the less affected extremity were found in the ga/ta condition. clinically meaningful trends were evident for improvements in dorsiflexion kinematics for the more and less affected extremities in the ta only and ga/ta conditions. the results suggest that p-fes might immediately improve ankle kinematics in children with cp.

cerebellar hypoplasia is a rare malformation caused by a variety of etiologies. it usually manifests clinically as non-progressive cerebellar ataxia with or without mental retardation. we further characterize a syndrome of autosomal recessive cerebellar hypoplasia in the hutterite population, referred to as dysequilibrium syndrome (des). we reviewed 12 patients (eight females, four males; age range 4 to 33y) with this syndrome. patients were examined and underwent a standard set of investigations to characterize better the clinical features, natural history, and neuroimaging of this syndrome. des is an autosomal recessive disorder with distinct clinical features including global developmental delay, late ambulation (after age 6y), truncal ataxia, and a static clinical course. neuroimaging is characterized by hypoplasia of the inferior portion of the cerebellar hemispheres and vermis, and mild simplification of cortical gyri.

osteopenia is common in children, adolescents, and young adults with severe cerebral palsy (cp; spastic quadriplegia) living in residential care, and frequently results in atraumatic fractures. on clinical grounds 67 patients (34 males, 33 females) with severe cp (gross motor function classification system [gmfcs] levels iv or v) aged 5 to 25 years (median 20y) were divided into three groups with increasing likelihood of severe impairment of bone quality: (1) patients without fractures and without anticonvulsant medication (n=13); (2) patients without fractures and with anticonvulsant medication (n=45); (3) patients with fractures and with anticonvulsant medication (n=9). evaluation included measurements of quantitative ultrasound (qus) of the calcaneus, multiple serum analyses, and determination of urinary bone-resorption markers. values of the quantitative ultrasound index (qui) were significantly different (p=0.001): group 1 (median 56.9; interquartile range 43.8–75.3); group 2 (49.9; 40.0–60.0); group 3 (35.6; 30.5–38.5). when comparing values of laboratory serum and urine in the three groups, we found significant differences in values of serum bone alkaline phosphatase (p=0.001), serum parathyroid hormone (pth; p=0.002), serum albumin (p=0.020), and urinary deoxypyridinoline/creatinine ratio (p=0.004). in multiple regression analysis, no laboratory variable was found to be an independent predictor of qui. qus of the calcaneus may be a useful method to assess bone quality and fracture risk in children and young adults with severe cp living in residential care, independent of information from laboratory data.

damage to the occipital lobe of the brain results in hemianopia when unilateral, and cerebral blindness when bilateral. however, in some cases a degree of visual function persists in the blind visual field. this aim of this study was to describe this phenomenon of ‘blindsight’ in a cohort of children with brain-damage and to relate the clinical features to their visual evoked potentials. we performed a retrospective analysis of 541 case records of children referred to a tertiary vision-assessment clinic in the royal hospital for sick children, glasgow, uk from 1992 to 2002. a total of 541 patients were analyzed (243 females, 298 males; age range 2mo to 19y 6mo, mean 6y 2mo). in 19 children with profound visual impairment and four children with hemianopia (12 females, 11 males; age range 1 to 18y, mean age 8y 3mo), evidence of perception of movement in the blind visual field was found and is described. flash visual evoked potentials varied from no response to normal and was not correlated with visual behaviour. recognition, detection, and use of this phenomenon in children is vital to their rehabilitation and interaction with their surroundings.

determining clinically whether or not a child with abnormal movements is having seizures is rarely easy. several non-epileptic causes of apparent seizures are well described, especially gastro-oesophageal reflux. stool withholding is very common in childhood, and can start very soon after birth. although it can cause major issues for the child and family, it is rarely considered by health care professionals to be more than a nuisance. a major feature of this is pain related to defaecation. further, in order to enhance withholding and thus prevent defaecation, a child may adopt positions and facial features that can mimic seizures. this paper presents four children (two males, two females) who presented, between the ages of 3 and 13 months, over a 2-year period to a general paediatric clinic (held in hospitals in watford and hemel hempstead, hertfordshire, uk). all received multiple investigations before accurate diagnosis. this highlights the fact that stool withholding should be added to the differential diagnosis of seizures in infancy.

magnetic resonance imaging (mri) of a 5-day-old female born at term with congenital leftsided hemiplegia revealed t2 shortening and t2* signal dropout lining the lateral wall of a focally enlarged right lateral ventricle, reflecting the deposition of haemosiderin or ferritin derived from periventricular venous infarction in utero. this observation strengthens the hypothesis that congenital hemiplegia in children born at term can result from a clinically silent periventricular venous infarction in utero. the loss of shortening of t2 in the right posterior limb of the internal capsule at birth was followed by prolongation of t2 at 1 year. it is important to evaluate the asymmetry of the posterior limb shown by mri to predict future hemiplegia and enable early therapy.

botulinum toxin a (btx-a) is increasingly being used in early management of spasticity in ambulant children with cerebral palsy (cp), with the aim of improving function, promoting muscle growth, and delaying the need for surgical intervention. however, there is a lack of evidence about the long-term outcome of btx-a injections. the focus on spasticity as the predominant problem in younger children with spastic cp may not fully consider the associated muscle weakness. it also raises concern that although btx-a may improve function in the short term, it has the potential to affect muscle growth and function adversely in the long term. a cautious approach to the early use of btx-a, with the use of objective outcome measures within a specialized multidisciplinary setting, is recommended, particularly in ambulant children with spastic diplegic cp, until further evidence is available on the long-term outcome of early btx-a injections in children with cp.

spasticity, a neurological problem secondary to an upper motor neuron lesion, has a significant effect on skeletal muscle. the upper motor neuron lesions may be secondary to a cerebral vascular accident, head injury, spinal cord injury, or degenerative diseases such as multiple sclerosis, or perinatal brain injuries such as cerebral palsy. functional ability in these patients can be severely compromised but the basic mechanisms underlying these deficits are not clearly understood. in this review we evaluate the current evidence in the literature that suggests that skeletal muscle tissue itself is altered in spastic conditions. experimental studies were evaluated that included a variety of methods encompassing joint mechanics, tissue mechanics, and muscle morphology. taken together, the literature strongly supports the assertion that ‘spastic muscles’ are altered in a way that is unique among muscle plasticity models and inconsistent with simple transformation due to chronic stimulation or disuse. further studies are required to detail the intra- and extracellular modifications of skeletal muscle that occur secondary to spasticity so that novel therapeutic treatments can be developed for this impairment.